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within Human Genetics Remove this filter Medicine/Public Health, general Remove this filter Peter Stenzel Remove this filter

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  1. Article

    Open Access

    Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

    Schimke immuno-osseous dysplasia (SIOD) is a multisystemic disorder caused by biallelic mutations in the SWI/SNF-related matrix-associated actin-dependent regulator of chromatin, subfamily A-like 1 (SMARCAL1) gen...

    Marie Morimoto, Clara Myung, Kimberly Beirnes… in Orphanet Journal of Rare Diseases (2016)

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  2. Article

    Open Access

    Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-depe...

    Marie Morimoto, Zhongxin Yu, Peter Stenzel… in Orphanet Journal of Rare Diseases (2012)

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